STUDY OF THE EPIDEMIOLOGY AND MOLECULAR ETIOLOGY OF SELECTIVE PATIENTS OF Β-THALASSEMIA IN VIDARBHA REGION

Background: Thalassemia is a group of genetic disorders characterized by quantitative defects in globin chain
synthesis with subsequent absence or decrease of haemoglobin production leading to variable degrees of
microcytic anaemia. It is commonly found in people of Mediterranean, African, Middle Eastern, Indian, Chinese,
or Southeast Asian origin. ?-thalassaemia is an autosomal recessive single gene disorder characterized by reduced
?+ or ?0. ? globin chain synthesis leads to reduced haemoglobin A (HbA) synthesis. By the advance, PCR based
DNA diagnostic techniques; it is now possible to offer diagnosis of thalassemia using extracted blood DNA. Aim
and Objective: This study was done with an aim to evaluate the epidemiology and molecular etiology of ?-
Thalassemia in Vidarbha region. Materials & Methods: 30 blood samples were collected from Thalassemia
patients and DNA was extracted from peripheral blood lymphocytes of the patient using Spin column method of
blood DNA extraction kit (VivantisTM GF-1 Blood DNA Extraction Kit). The DNA thus obtained was processed by
a qualitative conventional PCR reaction to detect the amplification of 4 different genes (4 mutations), using 7
specific primers followed by agarose gel electrophoresis of the amplicons and visualized by ethidium bromide. We
also collect data regarding the onset of diseases along with some socioeconomic questionnaire. Result: 30 blood
samples were collected from ?-thalassemia carriers (minor) from Vidarbha Region. Out of which four common ?-
thalassemia mutations, IVS I-nt 5(G-C), IVS I-nt 1(G-T), Co 8/9 (+G) and Co 41/42 (-CTT) were found in random
population of Vidarbha Region, in 43%, 23%, 17% & 10% respectively. Conclusion: These observations might
help in forming ?- thalassemia database of the region which may useful for genetic counseling and prenatal
diagnosis.